List of variants reported as pathogenic by Simons Lab, The University of Queensland

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001605.3(AARS1):c.1997T>C (p.Val666Ala)	rs145056270	0.00001
NC_012920.1:m.10134C>A	rs587780529
NM_001605.3(AARS1):c.1741G>A (p.Gly581Ser)	rs762734676
NM_001605.3(AARS1):c.296A>G (p.Glu99Gly)	rs2152166979
NM_001605.3(AARS1):c.562_563inv (p.Ser188Leu)
NM_001605.3(AARS1):c.778A>G (p.Thr260Ala)	rs1165867512
NM_014698.3(TMEM63A):c.1385T>A (p.Ile462Asn)	rs1576080546
NM_014698.3(TMEM63A):c.1699G>A (p.Gly567Ser)	rs1576074651
NM_014698.3(TMEM63A):c.503G>A (p.Gly168Glu)	rs1576101665

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